Details

Autor(en) / Beteiligte

• Miller, Jennifer L

Titel

Approach to the Child with Prader-Willi Syndrome

Ist Teil von

• The journal of clinical endocrinology and metabolism, 2012-11, Vol.97 (11), p.3837-3844

Ort / Verlag

Bethesda, MD: Endocrine Society

Erscheinungsjahr

2012

Link zum Volltext

Quelle

Oxford Journals 2020 Medicine

Beschreibungen/Notizen

• Prader-Willi syndrome (PWS) is a complex genetic disorder that is caused by the absence of normally active paternally expressed genes from the chromosome 15q11-q13 region (1). PWS has a prevalence of 1/10,000 to 1/30,000 individuals and is characterized by poor feeding in infancy often associated with failure to thrive, followed by obesity beginning around age 2 (1, 2). These individuals also have hyperphagia, hypotonia, developmental and cognitive delay, behavioral problems, and neuroendocrine abnormalities. Hypogonadism is present in both males and females and manifests as genital hypoplasia, incomplete pubertal development, and, in most, infertility. Short stature is common, related to GH insufficiency. Characteristic facial features, strabismus, and scoliosis are often present, and there is an increased incidence of sleep disturbance and type II diabetes mellitus, the latter particularly in those who become obese.